title: Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene.
abstract: We have cloned and characterized the Na,K-ATPase beta 3 subunit gene (ATP1B3), and a beta 3 subunit pseudogene (ATP1B3P1), from a human PAC genomic library. The beta 3 subunit gene is > 50 kb in size and is split into 7 exons. The exon/intron organization of the beta 3 subunit gene is identical to that of the Na,K-ATPase beta 3 subunit gene, indicating that these two genes evolved from a common evolutionary ancestor. Comparison of the promoter region of the human and mouse beta 3 subunit gene reveals a high degree of homology within a 300-bp segment located immediately upstream of the translation start site, suggesting that control elements that serve to regulate the cell-specific expression of the beta 3 subunit gene are likely to be located within this conserved region. Dot blot analysis of beta 3 subunit transcripts revealed expression within virtually all human tissues, while in situ hybridization showed expression of beta 3 mRNA in both neurons and glia of rat brain. Fluorescence in situ hybridization with PAC DNA clones localized ATP1B3 to the q22-->23 region of Chromosome (Chr) 3, and the beta 3 pseudogene to the p13-->15 region of Chr 2.
authors.affiliation: Department of Pharmacology, Penn State College of Medicine, Milton S. Hershey Medical Center, Pennsylvania 17033, USA.
authors.forename: N
authors.initials: N
authors.lastname: Malik
authors.forename: V
authors.initials: V
authors.lastname: Canfield
authors.forename: G
authors.initials: G
authors.lastname: Sanchez-Watts
authors.forename: A G
authors.initials: AG
authors.lastname: Watts
authors.forename: S
authors.initials: S
authors.lastname: Scherer
authors.forename: B G
authors.initials: BG
authors.lastname: Beatty
authors.forename: P
authors.initials: P
authors.lastname: Gros
authors.forename: R
authors.initials: R
authors.lastname: Levenson
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003001:Cloning, Molecular; D005091:Exons; D015870:Gene Expression; D015723:Gene Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D051379:Mice; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011544:Pseudogenes; D051381:Rats; D000254:Sodium-Potassium-Exchanging ATPase / Q000737:chemistry / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: C519304:ATP1B3 protein, human; D000254:Sodium-Potassium-Exchanging ATPase